Face and neck swelling in a 16-year-old boy.

Scleredema adultorum is a rare condition characterised by progressive collagen and mucin deposition in the skin. While the aetiology has not been clearly delineated, the condition is often associated with common infections. The current report describes a previously healthy 16-year-old boy who presented with 3 weeks of progressive neck swelling and skin induration. He had evidence of both active streptococcal and Ebstein-Barr virus (EBV) infections. Skin biopsy confirmed the diagnosis of scleredema. The patient was treated for his streptococcal infection, but otherwise managed conservatively. Clear improvement in the signs and symptoms was seen at a 3-month follow-up appointment. Scleredema can be a complication of streptococcal infection but to our knowledge has not been reported in association with EBV. It should be considered in the differential diagnosis of any patient presenting with cutaneous/subcutaneous induration and swelling of the face and/or neck.

Gorlin syndrome presenting with a unilateral ovarian fibroma in a 22-year-old woman: a case report.

INTRODUCTION: Nevoid basal cell carcinoma syndrome, or Gorlin syndrome, is an inherited disorder characterized by malignancies of the skin and other organs, skeletal abnormalities, and congenital malformations. The syndrome follows an autosomal dominant inheritance pattern with a gene mutation localized to 9q22.3. CASE PRESENTATION: We present the case of a 22-year-old Caucasian woman with a unilateral ovarian fibroma, falx cerebri calcification and odontogenic keratocysts, but without any skin manifestations. The diagnosis of nevoid basal cell carcinoma syndrome was made after a right salpingo-oophorectomy for a calcified ovarian fibroma with cystic degeneration. Pathologic examination of the 10 cm right ovarian mass revealed a well-circumscribed spindle cell lesion. Immunohistochemical staining of the lesion demonstrated positivity for vimentin and smooth muscle actin. CONCLUSION: It is important to recognize that nevoid basal cell carcinoma syndrome may present in the absence of skin lesions. Additionally, ovarian fibromas are typically bilateral in nevoid basal cell carcinoma syndrome, but can uncommonly be unilateral, which may alter clinical management. Ovarian fibromas are managed with surgical excision with an attempt at ovarian functional preservation.

Plexiform fibrohistiocytic tumor: a brief review.

Plexiform fibrohistiocytic tumor is a rare mesenchymal neoplasm of intermediate malignancy, first reported by Enzinger and Zhang in 1988. It has a predilection for children and young adults but can occur at any age. The tumor usually involves the upper limbs as a slow-growing, painless mass. The tumor has a high local recurrence rate but metastasizes only rarely. Histologically, the tumor is characterized by poorly demarcated dermal or subcutaneous mass with multinodular plexiform growth and fibrohistiocytic cytomorphology. There are three distinct recognized growth patterns: fibrohistiocytic, fibroblastic, and mixed types. The tumor displays uniform immunoreactivity for vimentin and CD68. Ultrastructurally, the tumor cells have features of myofibroblasts and histiocyte-like cells. Complete surgical resection of the tumor, preferably with wider margins, is required to prevent local recurrence. Long-term follow-up is necessary to detect any nodal or pulmonary metastasis.

Tubedown expression correlates with the differentiation status and aggressiveness of neuroblastic tumors.

PURPOSE: The discovery and validation of new prognostic factors and further refinement of risk group stratification are needed to improve clinical interpretation of neuroblastoma. Our laboratory isolated and characterized a developmentally regulated gene named TUBEDOWN against which we have raised a monoclonal antibody (OE5). Tubedown becomes down-regulated postnatally yet remains strongly expressed in some neuroblastomas. The purpose of this study is to define the utility of Tubedown expression as a new measure of the differentiation status and aggressiveness of neuroblastic tumors. EXPERIMENTAL DESIGN: Tubedown protein expression was quantitatively assessed in neuroblastic tumors (neuroblastomas, ganglioneuroblastomas, and ganglioneuromas) and normal adrenal tissues using Western blot and OE5 immunohistochemistry. Regulation of Tubedown expression during retinoic acid-induced neuronal differentiation in neuroblastoma cell lines was assessed by Western blotting. RESULTS: High levels of Tubedown expression are observed in tumors with significant neuroblastic component, unfavorable histopathology, advanced stage, high-risk group, and poor outcome. In contrast, more differentiated subsets of neuroblastic tumors, ganglioneuroblastomas with favorable histopathology and ganglioneuromas, express low levels of Tubedown. In vitro, marked retinoic acid-induced neuronal differentiation responses of neuroblastoma cells are associated with a significant decrease in Tubedown expression, whereas limited neuronal differentiation responses to retinoic acid were associated with little or no decrease in Tubedown expression. CONCLUSIONS: Our results indicate that the levels of Tubedown expression are linked to the differentiation status and aggressiveness of neuroblastic tumors and represent an independent prognostic factor for neuroblastoma. Tubedown expression may be useful to more accurately define different neuroblastic tumor subsets and ultimately provide more adequate assessment and treatment for neuroblastoma patients.